TTC12 (tetratricopeptide repeat domain 12)

2007-12-01  

Identity

HGNC
LOCATION
11q23.2
LOCUSID
ALIAS
CILD45,TPARM
FUSION GENES

Other Information

Locus ID:

NCBI: 54970
MIM: 610732
HGNC: 23700
Ensembl: ENSG00000149292

Variants:

dbSNP: 54970
ClinVar: 54970
TCGA: ENSG00000149292
COSMIC: TTC12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149292ENST00000314756Q9H892
ENSG00000149292ENST00000314756B0YJB4
ENSG00000149292ENST00000393020A8MTE9
ENSG00000149292ENST00000429951C9JYU1
ENSG00000149292ENST00000442859C9J1D2
ENSG00000149292ENST00000455306C9JPY5
ENSG00000149292ENST00000462711H0YEF6
ENSG00000149292ENST00000464224E9PP06
ENSG00000149292ENST00000483239J3KR69
ENSG00000149292ENST00000494714Q9H892
ENSG00000149292ENST00000494714B0YJB4
ENSG00000149292ENST00000524580E9PIB6
ENSG00000149292ENST00000525965E9PKU6
ENSG00000149292ENST00000527362H0YDB4
ENSG00000149292ENST00000529221Q9H892
ENSG00000149292ENST00000529221A8K8G6
ENSG00000149292ENST00000529850E9PJI9
ENSG00000149292ENST00000531164E9PIS6

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
362732012022Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.3
362732012022Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.3
342851422021An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20.2
342851422021An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20.2
319783312020TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.24
319783312020TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.24
301041632018A neurobiological pathway to smoking in adolescence: TTC12-ANKK1-DRD2 variants and reward response.6
301041632018A neurobiological pathway to smoking in adolescence: TTC12-ANKK1-DRD2 variants and reward response.6
233034822013ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure.32
233034822013ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure.32
211681252011TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.45
211681252011TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.45
201333812010Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans.9
201333812010Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans.9
201333812010Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans.9

Citation

Dessen P

TTC12 (tetratricopeptide repeat domain 12)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49940/ttc12-(tetratricopeptide-repeat-domain-12)